Gain-of-function IKBKB mutation causes human combined immune deficiency

Genetic mutations account for many devastating early onset immune deficiencies. In contrast, less severe and later onset immune diseases, including in patients with no prior family history, remain poorly understood. Whole exome sequencing in two cohorts of such patients identified a novel heterozygo...

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Detalles Bibliográficos
Autores principales: Cardinez, Chelisa, Miraghazadeh, Bahar, Tanita, Kay, da Silva, Elizabeth, Hoshino, Akihiro, Okada, Satoshi, Chand, Rochna, Asano, Takaki, Tsumura, Miyuki, Yoshida, Kenichi, Ohnishi, Hidenori, Kato, Zenichiro, Yamazaki, Masahide, Okuno, Yusuke, Miyano, Satoru, Kojima, Seiji, Ogawa, Seishi, Andrews, T. Daniel, Field, Matthew A., Burgio, Gaetan, Morio, Tomohiro, Vinuesa, Carola G., Kanegane, Hirokazu, Cook, Matthew C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2018
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6219745/
https://www.ncbi.nlm.nih.gov/pubmed/30337470
http://dx.doi.org/10.1084/jem.20180639

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